autosomal recessive intellectual developmental disorder 48

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Summary

Literature (0)

DOID:0081212 - autosomal recessive intellectual developmental disorder 48

Disease Ontology Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc6a17

MIM:

MIM:616269 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48; MRT48

MIM:616269 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48; MRT48

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive intellectual developmental disorder (is_a)